Varaico: Literature-Extracted Genetic Variants

Gene:KIF1A
Variant:p.R169K
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KIF1A

NM_001244008.2:p.R169K

Associated Papers

Understanding speech and language in KIF1A-associated neurological disorder.

Morison LD et al.

European Journal of Human Genetics : Ejhg, 2026

The Novel KIF1A Missense Variant (R169T) Strongly Reduces Microtubule Stimulated ATPase Activity and Is Associated With NESCAV Syndrome.

Aguilera C et al.

Frontiers in Neuroscience, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."